The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)(Trp) gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single- fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNA(Trp) gene.
Silvestri, G., Mongini, T., Odoardi, F., Modoni, A., Derosa, G., Doriguzzi, C., Palmucci, L., Tonali, P., Servidei, S., A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency, <<NEUROLOGY>>, 2000; 54 (8): 1693-1696. [doi:10.1212/WNL.54.8.1693] [http://hdl.handle.net/10807/166587]
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency
Silvestri, G.;Modoni, A.;Servidei, S.
2000
Abstract
The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)(Trp) gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single- fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNA(Trp) gene.
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